Progeria

Progeria

What is progeria?

Progeria, also known as Hutchinson-Gilford progeria syndrome (HGPS), is an extremely rare genetic condition that causes children to prematurely age. It affects around one in four million newborns worldwide[1]. At birth, children generally appear healthy but by one year of age, changes to growth and development begin to occur. Children typically weigh less and are shorter than others their age. A distinctive appearance develops, including aged-looking skin, baldness and a small face. As children age, progressive atherosclerosis and heart disease develops, which becomes fatal at an average age of 13-14 years[1]. There is currently no treatment or cure for progeria.

Atherosclerosis

Fatty deposits within arteries of the body.

Heart disease

A class of diseases that involves the dysfunction of the heart and/or the blood vessels.

Causes

Progeria is caused by a mutation of the gene LMNA (pronounced Lamin A). In progeria, the LMNA gene is altered at a very specific point, which not only makes the condition very rare, but causes a range of symptoms associated with premature ageing.

The mutation occurs at random, which means that parents and siblings are virtually never affected by the condition.

Types of treatment

Currently there is no cure for progeria; however, research is ongoing. There are medications available to manage some symptoms and improve quality of life. These include cholesterol-lowering medications to slow atherosclerosis and osteoporosis medication to increase bone density. Low-dose aspirin can also be given to reduce the risk of complications associated with progeria, including heart attack and stroke.

Recently, a clinical trial looking at the effectiveness of a drug called lonafarnib in children with progeria was conducted[2]. The medication was originally developed to treat cancer. The research found that all participants in the trial benefitted from the drug in one or more of the following ways - weight gain, better hearing, improved bone structure and increased flexibility of blood vessels. It isn't a cure, but may improve certain outcomes.

Atherosclerosis

Fatty deposits within arteries of the body.

Cholesterol

A type of fat produced by the body that is necessary for metabolism.

Bone density

Also known as bone mineral density, it is a measure of bone strength calculated as the mineral content per square centimeter of bone. The higher the mineral content, the denser and stronger the bones.

“Progeria Research Foundation | About Progeria.” Accessed November 7, 2014.

Potential complications

Children born with progeria have an increased risk of heart attack and stroke that can occur at any age. It is therefore important to frequently monitor blood pressure and have regular echocardiogram and electrocardiogram (EGC) tests to evaluate heart function. Brain imaging is also possible to look for any abnormalities, including abnormal blood vessel formation or blood vessel narrowing.

Blood pressure

The pressure the blood places on the walls of the arteries, largely mirroring the contraction of the heart, and consisting of two readings. The higher reading is systolic blood pressure, when the heart contracts, and the lower is diastolic blood pressure, when the heart is relaxed.

Echocardiogram

An ultrasound image of the heart.

Electrocardiogram

A chart of the heart's electrical activity.

“Progeria Research Foundation | About Progeria.” Accessed November 7, 2014.

Prognosis

Progeria causes accelerated ageing that becomes fatal at a young age. Treatment aims to manage symptoms and increase quality of life by continuously monitoring health and limiting the chance of life-threatening complications including heart attack and stroke. Currently there is no cure for progeria.

“Progeria Research Foundation | About Progeria.” Accessed November 7, 2014.

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